MAMMALIAN PHENOTYPE - ANNOTATIONS
The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term: abnormal head development
Accession: MP:0012176
browse the term
Definition: anomaly in the process in which the anatomical structures of the head are generated and organized
Synonyms: exact_synonym: abnormal cephalic development; abnormal cephalogenesis
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Apc
APC, WNT signaling pathway regulator
IAGP
MGI
PMID:12645927
NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
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Dlx5
distal-less homeobox 5
IAGP
MGI
PMID:10433909
NCBI chr 6:6,877,801...6,882,068
Ensembl chr 6:6,877,805...6,882,085
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E2f1
E2F transcription factor 1
IAGP
MGI
PMID:35593225
NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812
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Foxc1
forkhead box C1
IAGP
MGI
PMID:11562355
NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459
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Foxc2
forkhead box C2
IAGP
MGI
PMID:11562355
NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634
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Gbx2
gastrulation brain homeobox 2
IAGP
MGI
PMID:11731459
NCBI chr 1:89,855,684...89,858,898
Ensembl chr 1:89,855,678...89,858,901
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Grem1
gremlin 1, DAN family BMP antagonist
IAGP
MGI
PMID:21303853
NCBI chr 2:113,579,020...113,588,993
Ensembl chr 2:113,576,509...113,588,991
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Gt(ROSA)26Sor
gene trap ROSA 26, Philippe Soriano
IAGP
MGI
PMID:15107405
NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294
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H2az2
H2A.Z histone variant 2
IAGP
MGI
PMID:15107405
NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443
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Hdac1
histone deacetylase 1
IAGP
MGI
PMID:12032080
NCBI chr 4:129,409,897...129,436,516
Ensembl chr 4:129,409,897...129,436,506
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Nodal
nodal
IAGP
MGI
PMID:11311163
NCBI chr10:61,253,751...61,261,117
Ensembl chr10:61,253,751...61,261,117
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Nog
noggin
IAGP
MGI
PMID:21303853
NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158
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Otx2
orthodenticle homeobox 2
IAGP
MGI
PMID:11731459
NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276
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Pdpk1
3-phosphoinositide dependent protein kinase 1
IAGP
MGI
PMID:12110585
NCBI chr17:24,292,654...24,370,957
Ensembl chr17:24,292,654...24,369,898
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Pgap1
post-GPI attachment to proteins 1
IAGP
MGI
PMID:17711852
NCBI chr 1:54,512,159...54,596,843
Ensembl chr 1:54,512,153...54,596,843
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Pkn2
protein kinase N2
IAGP
MGI
PMID:26774483
NCBI chr 3:142,496,663...142,587,765
Ensembl chr 3:142,496,663...142,587,765
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Setd2
SET domain containing 2
IAGP
MGI
PMID:20133625
NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,361,665...110,447,701
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Snrpb
small nuclear ribonucleoprotein B
IAGP
MGI
PMID:35593225
NCBI chr 2:130,013,560...130,031,184
Ensembl chr 2:130,013,555...130,021,323
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Ssbp3
single-stranded DNA binding protein 3
IAGP
MGI
PMID:16864769
NCBI chr 4:106,768,667...106,906,891
Ensembl chr 4:106,767,898...106,906,891
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Tmem163
transmembrane protein 163
IAGP
MGI
PMID:21303853
NCBI chr 1:127,418,079...127,605,758
Ensembl chr 1:127,414,283...127,607,285
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Tmod1
tropomodulin 1
IAGP
MGI
PMID:14657235
NCBI chr 4:46,038,940...46,116,032
Ensembl chr 4:46,038,935...46,116,032
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Vcl
vinculin
IAGP
MGI
PMID:20644727
NCBI chr14:20,979,436...21,083,744
Ensembl chr14:20,979,466...21,083,744
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Ctnnb1
catenin (cadherin associated protein), beta 1
IAGP
MGI
PMID:21307168
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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Dkk1
dickkopf WNT signaling pathway inhibitor 1
IAGP
MGI
PMID:11702953 PMID:17133501
NCBI chr19:30,523,276...30,526,896
Ensembl chr19:30,523,263...30,527,065
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Foxh1
forkhead box H1
IAGP
MGI
PMID:11358869
NCBI chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148
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Lhx1
LIM homeobox protein 1
IAGP
MGI
PMID:7700351 PMID:10862151 PMID:15930111
NCBI chr11:84,408,801...84,416,360
Ensembl chr11:84,409,110...84,416,361
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Otx2
orthodenticle homeobox 2
IAGP
MGI
PMID:7590242 PMID:9811592
NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276
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Prdm15
PR domain containing 15
IAGP
MGI
PMID:31950080
NCBI chr16:97,592,667...97,653,076
Ensembl chr16:97,592,667...97,653,050
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Sfrp5
secreted frizzled-related sequence protein 5
IAGP
MGI
PMID:17133501
NCBI chr19:42,186,410...42,190,691
Ensembl chr19:42,186,410...42,190,691
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Ssbp3
single-stranded DNA binding protein 3
IAGP
MGI
PMID:15857913
NCBI chr 4:106,768,667...106,906,891
Ensembl chr 4:106,767,898...106,906,891
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Ctnnb1
catenin (cadherin associated protein), beta 1
IAGP
MGI
PMID:19631205
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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Osr2
odd-skipped related 2
IAGP
MGI
PMID:19631205
NCBI chr15:35,296,244...35,303,451
Ensembl chr15:35,296,244...35,303,451
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Arl6
ADP-ribosylation factor-like 6
IAGP
MGI
PMID:27170093
NCBI chr16:59,433,312...59,459,772
Ensembl chr16:59,433,312...59,459,754
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Lef1
lymphoid enhancer binding factor 1
IAGP
MGI
PMID:10090727
NCBI chr 3:130,903,972...131,018,006
Ensembl chr 3:130,904,120...131,018,005
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Ski
ski sarcoma viral oncogene homolog (avian)
IAGP
MGI
PMID:9284043
NCBI chr 4:155,238,532...155,306,992
Ensembl chr 4:155,238,532...155,307,049
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Tcf7
transcription factor 7, T cell specific
IAGP
MGI
PMID:10090727
NCBI chr11:52,137,347...52,174,211
Ensembl chr11:52,143,198...52,174,158
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Bmp4
bone morphogenetic protein 4
IAGP
MGI
PMID:12717732
NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
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Bmp7
bone morphogenetic protein 7
IAGP
MGI
PMID:33431521
NCBI chr 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114
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Cacnb2
calcium channel, voltage-dependent, beta 2 subunit
IAGP
MGI
PMID:16946137
NCBI chr 2:14,608,672...14,993,622
Ensembl chr 2:14,607,899...14,992,719
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Cdon
cell adhesion molecule-related/down-regulated by oncogenes
IAGP
MGI
PMID:17504941
NCBI chr 9:35,332,836...35,418,948
Ensembl chr 9:35,332,424...35,418,948
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Ctnnb1
catenin (cadherin associated protein), beta 1
IAGP
MGI
PMID:21087601
NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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Foxg1
forkhead box G1
IAGP
MGI
PMID:12717732 PMID:23872235
NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644
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Gas1
growth arrest specific 1
IAGP
MGI
PMID:17504941
NCBI chr13:60,322,219...60,325,179
Ensembl chr13:60,322,219...60,325,179
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Gt(ROSA)26Sor
gene trap ROSA 26, Philippe Soriano
IAGP
MGI
PMID:15107405
NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294
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H2az2
H2A.Z histone variant 2
IAGP
MGI
PMID:15107405 PMID:31733190 PMID:33431521 PMID:34184034
NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443
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Mesp1
mesoderm posterior 1
IAGP
MGI
PMID:23872235
NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536
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Ndst1
N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
IAGP
MGI
PMID:18385133
NCBI chr18:60,817,566...60,907,465
Ensembl chr18:60,817,566...60,881,722
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Ndst3
N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3
IAGP
MGI
PMID:18385133
NCBI chr 3:123,319,815...123,484,822
Ensembl chr 3:123,319,815...123,484,502
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Nubp2
nucleotide binding protein 2
IAGP
MGI
PMID:31733190
NCBI chr17:25,101,585...25,105,423
Ensembl chr17:25,101,585...25,105,323
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Pax3
paired box 3
IAGP
MGI
PMID:23872235
NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771
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Pax6
paired box 6
IAGP
MGI
PMID:3794606
NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709
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Six1
sine oculis-related homeobox 1
IAGP
MGI
PMID:21364285
NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661
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Sp8
trans-acting transcription factor 8
IAGP
MGI
PMID:23872235
NCBI chr12:118,809,968...118,816,313
Ensembl chr12:118,810,064...118,816,311
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Srsf3
serine and arginine-rich splicing factor 3
IAGP
MGI
PMID:34184034
NCBI chr17:29,251,634...29,262,346
Ensembl chr17:29,251,602...29,262,347
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Alx1
ALX homeobox 1
IAGP
MGI
PMID:35127681
NCBI chr10:102,843,708...102,865,501
Ensembl chr10:102,834,568...102,866,076
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Sox10
SRY (sex determining region Y)-box 10
IAGP
MGI
PMID:23643381
NCBI chr15:79,039,113...79,048,690
Ensembl chr15:79,039,108...79,049,440
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Ttn
titin
IAGP
MGI
PMID:15136139
NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891
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Vax1
ventral anterior homeobox 1
IAGP
MGI
PMID:28771384
NCBI chr19:59,152,912...59,158,829
Ensembl chr19:59,154,619...59,158,488
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Aldh1a2
aldehyde dehydrogenase family 1, subfamily A2
IAGP
MGI
PMID:17067568
NCBI chr 9:71,123,071...71,203,525
Ensembl chr 9:71,123,071...71,203,525
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Alx3
aristaless-like homeobox 3
IAGP
MGI
PMID:20534379
NCBI chr 3:107,502,347...107,513,191
Ensembl chr 3:107,502,347...107,513,092
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Bmp4
bone morphogenetic protein 4
IAGP
MGI
PMID:22219353
NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
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Dync2li1
dynein cytoplasmic 2 light intermediate chain 1
IAGP
MGI
PMID:15371312
NCBI chr17:84,933,903...84,962,996
Ensembl chr17:84,933,924...84,963,016
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Fbxl19
F-box and leucine-rich repeat protein 19
IAGP
MGI
PMID:29809150
NCBI chr 7:127,343,059...127,368,655
Ensembl chr 7:127,343,715...127,368,655
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Fgfr1
fibroblast growth factor receptor 1
IAGP
MGI
PMID:8001822
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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Fuz
fuzzy planar cell polarity protein
IAGP
MGI
PMID:21935430
NCBI chr 7:44,545,517...44,552,053
Ensembl chr 7:44,545,503...44,552,055
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Glmn
glomulin, FKBP associated protein
IAGP
MGI
PMID:22405651
NCBI chr 5:107,696,828...107,745,754
Ensembl chr 5:107,696,833...107,745,754
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H2az2
H2A.Z histone variant 2
IAGP
MGI
PMID:31733190
NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443
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Has2
hyaluronan synthase 2
IAGP
MGI
PMID:10930438
NCBI chr15:56,529,023...56,557,942
Ensembl chr15:56,529,023...56,557,935
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Hectd1
HECT domain E3 ubiquitin protein ligase 1
IAGP
MGI
PMID:17442300
NCBI chr12:51,790,504...51,876,540
Ensembl chr12:51,790,505...51,876,319
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Hif1a
hypoxia inducible factor 1, alpha subunit
IAGP
MGI
PMID:9436976
NCBI chr12:73,948,098...73,994,328
Ensembl chr12:73,948,149...73,994,304
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Hira
histone cell cycle regulator
IAGP
MGI
PMID:11884616
NCBI chr16:18,695,500...18,789,059
Ensembl chr16:18,695,787...18,789,059
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Kat2a
K(lysine) acetyltransferase 2A
IAGP
MGI
PMID:11017084
NCBI chr11:100,595,572...100,603,293
Ensembl chr11:100,595,572...100,603,291
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Mapk7
mitogen-activated protein kinase 7
IAGP
MGI
PMID:14675480
NCBI chr11:61,379,638...61,385,101
Ensembl chr11:61,379,638...61,385,232
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Med12
mediator complex subunit 12
IAGP
MGI
PMID:20630950
NCBI chr X:100,317,697...100,342,540
Ensembl chr X:100,317,636...100,341,071
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Mixl1
Mix paired-like homeobox
IAGP
MGI
PMID:12117810
NCBI chr 1:180,520,608...180,524,599
Ensembl chr 1:180,520,608...180,524,599
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Nubp2
nucleotide binding protein 2
IAGP
MGI
PMID:31733190
NCBI chr17:25,101,585...25,105,423
Ensembl chr17:25,101,585...25,105,323
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Ovol2
ovo like zinc finger 2
IAGP
MGI
PMID:16423343
NCBI chr 2:144,147,095...144,174,000
Ensembl chr 2:144,147,095...144,174,066
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Pmm2
phosphomannomutase 2
IAGP
MGI
PMID:22157680
NCBI chr16:8,455,467...8,475,472
Ensembl chr16:8,455,538...8,480,331
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Ptk2
PTK2 protein tyrosine kinase 2
IAGP
MGI
PMID:7478517
NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129
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Stk11
serine/threonine kinase 11
IAGP
MGI
PMID:11509733
NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516
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Vcl
vinculin
IAGP
MGI
PMID:20644727
NCBI chr14:20,979,436...21,083,744
Ensembl chr14:20,979,466...21,083,744
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Rtel1
regulator of telomere elongation helicase 1
IAGP
MGI
PMID:15210109
NCBI chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409
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Aldh1a1
aldehyde dehydrogenase family 1, subfamily A1
IAGP
MGI
PMID:16611695
NCBI chr19:20,469,947...20,620,827
Ensembl chr19:20,470,079...20,620,829
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Aldh1a3
aldehyde dehydrogenase family 1, subfamily A3
IAGP
MGI
PMID:16207763 PMID:16611695
NCBI chr 7:66,040,640...66,077,225
Ensembl chr 7:66,040,638...66,077,265
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Alx1
ALX homeobox 1
IAGP
MGI
PMID:35127681
NCBI chr10:102,843,708...102,865,501
Ensembl chr10:102,834,568...102,866,076
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Fgf8
fibroblast growth factor 8
IAGP
MGI
PMID:16720880
NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354
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H2az2
H2A.Z histone variant 2
IAGP
MGI
PMID:18058916 PMID:24700590
NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443
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Hprt
hypoxanthine guanine phosphoribosyl transferase
IAGP
MGI
PMID:18058916
NCBI chr X:52,076,955...52,110,537
Ensembl chr X:52,077,014...52,110,536
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Mau2
MAU2 sister chromatid cohesion factor
IAGP
MGI
PMID:24700590
NCBI chr 8:70,465,896...70,495,384
Ensembl chr 8:70,468,773...70,495,384
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Nipbl
NIPBL cohesin loading factor
IAGP
MGI
PMID:24700590
NCBI chr15:8,319,308...8,494,799
Ensembl chr15:8,320,101...8,473,947
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Nkx2-5
NK2 homeobox 5
IAGP
MGI
PMID:16720880
NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983
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Prdm1
PR domain containing 1, with ZNF domain
IAGP
MGI
PMID:15750184
NCBI chr10:44,313,170...44,404,579
Ensembl chr10:44,313,173...44,404,497
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Rspo2
R-spondin 2
IAGP
MGI
PMID:21237142
NCBI chr15:42,884,184...43,034,990
Ensembl chr15:42,884,190...43,034,222
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Sox11
SRY (sex determining region Y)-box 11
IAGP
MGI
PMID:20596238
NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573
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Sox4
SRY (sex determining region Y)-box 4
IAGP
MGI
PMID:20596238
NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696
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Cfl1
cofilin 1, non-muscle
IAGP
MGI
PMID:15649475
NCBI chr19:5,540,483...5,544,059
Ensembl chr19:5,540,483...5,545,229
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Aldh1a1
aldehyde dehydrogenase family 1, subfamily A1
IAGP
MGI
PMID:16207763 PMID:16611695
NCBI chr19:20,469,947...20,620,827
Ensembl chr19:20,470,079...20,620,829
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Aldh1a3
aldehyde dehydrogenase family 1, subfamily A3
IAGP
MGI
PMID:16207763 PMID:16611695
NCBI chr 7:66,040,640...66,077,225
Ensembl chr 7:66,040,638...66,077,265
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H2az2
H2A.Z histone variant 2
IAGP
MGI
PMID:16207763
NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443
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Rarb
retinoic acid receptor, beta
IAGP
MGI
PMID:16207763
NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924
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Rarg
retinoic acid receptor, gamma
IAGP
MGI
PMID:16207763
NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952
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Btaf1
B-TFIID TATA-box binding protein associated factor 1
IAGP
MGI
PMID:21419221
NCBI chr19:36,903,479...36,991,457
Ensembl chr19:36,903,479...36,990,152
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Fbxl19
F-box and leucine-rich repeat protein 19
IAGP
MGI
PMID:29809150
NCBI chr 7:127,343,059...127,368,655
Ensembl chr 7:127,343,715...127,368,655
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Hacd2
3-hydroxyacyl-CoA dehydratase 2
IAGP
MGI
PMID:36693621
NCBI chr16:34,842,791...34,929,560
Ensembl chr16:34,842,798...34,929,547
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B3glct
beta-3-glucosyltransferase
IAGP
MGI
PMID:31600785
NCBI chr 5:149,601,565...149,686,064
Ensembl chr 5:149,601,695...149,686,064
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Chd7
chromodomain helicase DNA binding protein 7
IAGP
MGI
PMID:24840056
NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659
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Ctnnd1
catenin (cadherin associated protein), delta 1
IAGP
MGI
PMID:29805042
NCBI chr 2:84,417,440...84,489,321
Ensembl chr 2:84,430,415...84,481,109 Ensembl chr 2:84,430,415...84,481,109
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Fam172a
family with sequence similarity 172, member A
IAGP
MGI
PMID:29311329
NCBI chr13:77,856,799...78,314,359
Ensembl chr13:77,850,152...78,314,354
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Fgfr1
fibroblast growth factor receptor 1
IAGP
MGI
PMID:10942429
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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Hyal2
hyaluronoglucosaminidase 2
IAGP
MGI
PMID:28081210
NCBI chr 9:107,445,096...107,449,975
Ensembl chr 9:107,445,144...107,449,978
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Fn1
fibronectin 1
IAGP
MGI
PMID:8906418
NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
G
Foxc1
forkhead box C1
IAGP
MGI
PMID:11562355
NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459
G
Foxc2
forkhead box C2
IAGP
MGI
PMID:11562355
NCBI chr 8:121,842,910...121,845,634
Ensembl chr 8:121,842,910...121,845,634
G
Gata3
GATA binding protein 3
IAGP
MGI
PMID:34383890
NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
G
Zic3
zinc finger protein of the cerebellum 3
IAGP
MGI
PMID:17127413
NCBI chr X:57,075,988...57,081,990
Ensembl chr X:57,068,060...57,087,096
G
Atp2c1
ATPase, Ca++-sequestering
IAGP
MGI
PMID:17597066
NCBI chr 9:105,288,561...105,398,456
Ensembl chr 9:105,280,738...105,404,518
G
Gt(ROSA)26Sor
gene trap ROSA 26, Philippe Soriano
IAGP
MGI
PMID:23872235
NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294
G
H2az2
H2A.Z histone variant 2
IAGP
MGI
PMID:23872235
NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443
G
Kdm2b
lysine (K)-specific demethylase 2B
IAGP
MGI
PMID:21220025
NCBI chr 5:123,008,727...123,127,333
Ensembl chr 5:123,008,728...123,127,886
G
Sp8
trans-acting transcription factor 8
IAGP
MGI
PMID:23872235
NCBI chr12:118,809,968...118,816,313
Ensembl chr12:118,810,064...118,816,311
G
Alx1
ALX homeobox 1
IAGP
MGI
PMID:35127681
NCBI chr10:102,843,708...102,865,501
Ensembl chr10:102,834,568...102,866,076
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all